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Dentin dysplasia

MedGen UID:
8310
Concept ID:
C0011430
Disease or Syndrome
Synonyms: Dentin Dysplasia; Dentin Dysplasias; Dysplasia, Dentin; Dysplasias, Dentin
SNOMED CT: Dentin dysplasia (109492001); Dentinal dysplasia (109492001); Dentine dysplasia (109492001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
HPO: HP:0033784
Monarch Initiative: MONDO:0015613
Orphanet: ORPHA1653

Definition

This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications. [from HPO]

Professional guidelines

PubMed

Yuan M, Zheng X, Xue Y, He Z, Song G, Song Y
Oral Dis 2023 Sep;29(6):2394-2400. Epub 2023 Jan 13 doi: 10.1111/odi.14494. PMID: 36597617
Li F, Liu Y, Liu H, Yang J, Zhang F, Feng H
Oral Dis 2017 Apr;23(3):360-366. Epub 2017 Jan 24 doi: 10.1111/odi.12621. PMID: 27973701
Ranta H, Lukinmaa PL, Waltimo J
Am J Med Genet 1993 Jan 15;45(2):193-200. doi: 10.1002/ajmg.1320450209. PMID: 8456802

Recent clinical studies

Etiology

Simmer JP, Zhang H, Moon SJH, Donnelly LA, Lee YL, Seymen F, Koruyucu M, Chan HC, Lee KY, Wu S, Hsiang CL, Tsai ATP, Slayton RL, Morrow M, Wang SK, Shields ED, Hu JC
Genes (Basel) 2022 May 12;13(5) doi: 10.3390/genes13050858. PMID: 35627243Free PMC Article
Vargo RJ, Reddy R, Da Costa WB, Mugayar LRF, Islam MN, Potluri A
Int J Paediatr Dent 2020 Mar;30(2):216-224. Epub 2019 Nov 14 doi: 10.1111/ipd.12592. PMID: 31677309
Maciejewska I, Chomik E
J Dent 2012 Jul;40(7):542-8. Epub 2012 Apr 19 doi: 10.1016/j.jdent.2012.04.004. PMID: 22521702
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article
MacDougall M, Dong J, Acevedo AC
Am J Med Genet A 2006 Dec 1;140(23):2536-46. doi: 10.1002/ajmg.a.31359. PMID: 16955410

Diagnosis

Su T, Zhu Y, Wang X, Zhu Q, Duan X
Oral Dis 2023 Sep;29(6):2376-2393. Epub 2023 Apr 24 doi: 10.1111/odi.14589. PMID: 37094075
Mack Wilson J, Bell C, Queck K, Scott K
J Vet Dent 2022 Dec;39(4):376-390. Epub 2022 Sep 15 doi: 10.1177/08987564221123419. PMID: 36113440
Chen D, Li X, Lu F, Wang Y, Xiong F, Li Q
Oral Dis 2019 Mar;25(2):439-446. Epub 2018 Apr 10 doi: 10.1111/odi.12861. PMID: 29575674Free PMC Article
de La Dure-Molla M, Philippe Fournier B, Berdal A
Eur J Hum Genet 2015 Apr;23(4):445-51. Epub 2014 Aug 13 doi: 10.1038/ejhg.2014.159. PMID: 25118030Free PMC Article
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article

Therapy

Tawil PZ, Arnarsdottir EK, Phillips C, Saemundsson SR
J Endod 2018 Oct;44(10):1487-1491. Epub 2018 Aug 31 doi: 10.1016/j.joen.2018.06.018. PMID: 30174106
Kherfani A, Mahjoub H
Pan Afr Med J 2014;18:251. Epub 2014 Jul 26 doi: 10.11604/pamj.2014.18.251.4661. PMID: 25489356Free PMC Article
Da Rós Gonçalves L, Oliveira CA, Holanda R, Silva-Boghossian CM, Colombo AP, Maia LC, Feres-Filho EJ
J Periodontol 2008 Jul;79(7):1304-11. doi: 10.1902/jop.2008.070426. PMID: 18597615
Summersgill KF, Ruprecht A
Iowa Dent J 1993 Jan;79(1):10, 12. PMID: 8330957
Koshiba H, Kimura O, Nakata M, Witkop CJ Jr
Oral Surg Oral Med Oral Pathol 1978 Sep;46(3):376-85. doi: 10.1016/0030-4220(78)90403-6. PMID: 211469

Prognosis

Yuan M, Zheng X, Xue Y, He Z, Song G, Song Y
Oral Dis 2023 Sep;29(6):2394-2400. Epub 2023 Jan 13 doi: 10.1111/odi.14494. PMID: 36597617
Andersson K, Malmgren B, Åström E, Dahllöf G
Orphanet J Rare Dis 2018 Aug 22;13(1):145. doi: 10.1186/s13023-018-0887-2. PMID: 30134932Free PMC Article
Yang Q, Chen D, Xiong F, Chen D, Liu C, Liu Y, Yu Q, Xiong J, Liu J, Li K, Zhao L, Ye Y, Zhou H, Hu L, Tian Z, Shang X, Zhang L, Wei X, Zhou W, Li D, Zhang W, Xu X
J Med Genet 2016 Sep;53(9):624-33. Epub 2016 May 31 doi: 10.1136/jmedgenet-2015-103619. PMID: 27247351
Lee KE, Lee SK, Jung SE, Lee Zh, Kim JW
Oral Dis 2011 Oct;17(7):690-5. Epub 2011 Jul 8 doi: 10.1111/j.1601-0825.2011.01825.x. PMID: 21736673
McKnight DA, Suzanne Hart P, Hart TC, Hartsfield JK, Wilson A, Wright JT, Fisher LW
Hum Mutat 2008 Dec;29(12):1392-404. doi: 10.1002/humu.20783. PMID: 18521831Free PMC Article

Clinical prediction guides

Yuan M, Zheng X, Xue Y, He Z, Song G, Song Y
Oral Dis 2023 Sep;29(6):2394-2400. Epub 2023 Jan 13 doi: 10.1111/odi.14494. PMID: 36597617
Mack Wilson J, Bell C, Queck K, Scott K
J Vet Dent 2022 Dec;39(4):376-390. Epub 2022 Sep 15 doi: 10.1177/08987564221123419. PMID: 36113440
Simmer JP, Zhang H, Moon SJH, Donnelly LA, Lee YL, Seymen F, Koruyucu M, Chan HC, Lee KY, Wu S, Hsiang CL, Tsai ATP, Slayton RL, Morrow M, Wang SK, Shields ED, Hu JC
Genes (Basel) 2022 May 12;13(5) doi: 10.3390/genes13050858. PMID: 35627243Free PMC Article
Vogel P, Read RW, Hansen GM, Powell DR, Kantaputra PN, Zambrowicz B, Brommage R
Vet Pathol 2016 Jul;53(4):853-62. Epub 2016 Feb 29 doi: 10.1177/0300985815626778. PMID: 26926082
de La Dure-Molla M, Philippe Fournier B, Berdal A
Eur J Hum Genet 2015 Apr;23(4):445-51. Epub 2014 Aug 13 doi: 10.1038/ejhg.2014.159. PMID: 25118030Free PMC Article

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